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Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase… Expand Abstract Concentrations of pyridoxal-5'-phosphate in blood and urine of infants, children and adults as well as in various human… Expand We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities. He was found… Expand NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… Expand Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria… Expand An infantile case of cystathioninuria was described. The patient had retarded development and marked cystathioninuria. Large… Expand From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the… Expand It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the… Expand 1) An unusual ninhydrin-positive compound was found in urines from 6 cases of functional neural tumors with help of high voldtage… Expand